MCID: MTC075
MIFTS: 28

Metachromatic Leukodystrophy, Late Infantile Form

Categories: Neuronal diseases, Eye diseases, Metabolic diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards integrated aliases for Metachromatic Leukodystrophy, Late Infantile Form:

Name: Metachromatic Leukodystrophy, Late Infantile Form 59
Arylsulfatase a Deficiency, Late Infantile Form 59
Mld, Late Infantile Form 59

Characteristics:

Orphanet epidemiological data:

59
metachromatic leukodystrophy, late infantile form
Age of onset: Infancy; Age of death: early childhood;

Classifications:



Summaries for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards based summary : Metachromatic Leukodystrophy, Late Infantile Form, also known as arylsulfatase a deficiency, late infantile form, is related to metachromatic leukodystrophy and leukodystrophy. An important gene associated with Metachromatic Leukodystrophy, Late Infantile Form is ARSA (Arylsulfatase A), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include eye, and related phenotypes are reduced visual acuity and bilateral sensorineural hearing impairment

Related Diseases for Metachromatic Leukodystrophy, Late Infantile Form

Diseases in the Metachromatic Leukodystrophy family:

Metachromatic Leukodystrophy, Adult Form Metachromatic Leukodystrophy, Late Infantile Form
Metachromatic Leukodystrophy, Juvenile Form

Diseases related to Metachromatic Leukodystrophy, Late Infantile Form via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 metachromatic leukodystrophy 29.3 ARSA PSAP
2 leukodystrophy 28.6 ARSA PSAP
3 metachromatic leukodystrophy, adult form 9.6 ARSA PSAP
4 metachromatic leukodystrophy, juvenile form 9.6 ARSA PSAP
5 inclusion-cell disease 9.6 ARSA PSAP
6 krabbe disease 9.6 ARSA PSAP
7 sphingolipidosis 9.5 ARSA PSAP
8 tay-sachs disease 9.5 ARSA PSAP
9 lipid storage disease 9.3 ARSA PSAP
10 gaucher's disease 9.2 ARSA PSAP

Graphical network of the top 20 diseases related to Metachromatic Leukodystrophy, Late Infantile Form:



Diseases related to Metachromatic Leukodystrophy, Late Infantile Form

Symptoms & Phenotypes for Metachromatic Leukodystrophy, Late Infantile Form

Human phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007663
2 bilateral sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008619
3 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
4 abnormal social behavior 59 32 occasional (7.5%) Occasional (29-5%) HP:0012433
5 decerebrate rigidity 59 32 very rare (1%) Very rare (<4-1%) HP:0025013
6 vegetative state 59 32 very rare (1%) Very rare (<4-1%) HP:0031358
7 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
8 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
9 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
10 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
11 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
12 hyporeflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001265
13 generalized hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001290
14 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
15 dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0001332
16 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
17 frequent falls 59 32 frequent (33%) Frequent (79-30%) HP:0002359
18 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
19 leukodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002415
20 increased csf protein 59 32 frequent (33%) Frequent (79-30%) HP:0002922
21 progressive peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0007133
22 progressive gait ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0007240
23 punctate periventricular t2 hyperintense foci 59 32 frequent (33%) Frequent (79-30%) HP:0030081
24 toe walking 59 32 frequent (33%) Frequent (79-30%) HP:0040083
25 abnormality of visual evoked potentials 59 32 occasional (7.5%) Occasional (29-5%) HP:0000649
26 emotional lability 59 32 occasional (7.5%) Occasional (29-5%) HP:0000712
27 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
28 delusions 59 32 occasional (7.5%) Occasional (29-5%) HP:0000746
29 cholecystitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001082
30 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
31 loss of speech 59 32 occasional (7.5%) Occasional (29-5%) HP:0002371
32 abdominal distention 59 32 occasional (7.5%) Occasional (29-5%) HP:0003270
33 babinski sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0003487
34 abnormality of proteoglycan metabolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0004355
35 gait ataxia 59 Frequent (79-30%)
36 emg: chronic denervation signs 59 Frequent (79-30%)
37 emg 32 frequent (33%) HP:0003444

MGI Mouse Phenotypes related to Metachromatic Leukodystrophy, Late Infantile Form:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ARSA PSAP

Drugs & Therapeutics for Metachromatic Leukodystrophy, Late Infantile Form

Search Clinical Trials , NIH Clinical Center for Metachromatic Leukodystrophy, Late Infantile Form

Genetic Tests for Metachromatic Leukodystrophy, Late Infantile Form

Anatomical Context for Metachromatic Leukodystrophy, Late Infantile Form

MalaCards organs/tissues related to Metachromatic Leukodystrophy, Late Infantile Form:

41
Eye

Publications for Metachromatic Leukodystrophy, Late Infantile Form

Variations for Metachromatic Leukodystrophy, Late Infantile Form

ClinVar genetic disease variations for Metachromatic Leukodystrophy, Late Infantile Form:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh37 Chromosome 22, 51065766: 51065766
2 ARSA NM_000487.5(ARSA): c.293C> T (p.Ser98Phe) single nucleotide variant Pathogenic/Likely pathogenic rs74315456 GRCh38 Chromosome 22, 50627338: 50627338
3 ARSA ARSA, 11-BP DEL, EX8 deletion Pathogenic
4 ARSA ARSA, 1-BP DEL, 447C deletion Pathogenic
5 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Pathogenic rs74315459 GRCh37 Chromosome 22, 51064630: 51064630
6 ARSA NM_000487.5(ARSA): c.931G> A (p.Gly311Ser) single nucleotide variant Pathogenic rs74315459 GRCh38 Chromosome 22, 50626202: 50626202
7 ARSA NM_000487.5(ARSA): c.763G> A (p.Glu255Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315483 GRCh37 Chromosome 22, 51065110: 51065110
8 ARSA NM_000487.5(ARSA): c.763G> A (p.Glu255Lys) single nucleotide variant Pathogenic/Likely pathogenic rs74315483 GRCh38 Chromosome 22, 50626682: 50626682
9 ARSA NM_000487.5(ARSA): c.905G> T (p.Cys302Phe) single nucleotide variant Pathogenic rs74315484 GRCh37 Chromosome 22, 51064656: 51064656
10 ARSA NM_000487.5(ARSA): c.905G> T (p.Cys302Phe) single nucleotide variant Pathogenic rs74315484 GRCh38 Chromosome 22, 50626228: 50626228

Expression for Metachromatic Leukodystrophy, Late Infantile Form

Search GEO for disease gene expression data for Metachromatic Leukodystrophy, Late Infantile Form.

Pathways for Metachromatic Leukodystrophy, Late Infantile Form

Pathways related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.36 ARSA PSAP
2 10.71 ARSA PSAP

GO Terms for Metachromatic Leukodystrophy, Late Infantile Form

Cellular components related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 8.96 ARSA PSAP
2 lysosomal lumen GO:0043202 8.62 ARSA PSAP

Biological processes related to Metachromatic Leukodystrophy, Late Infantile Form according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.96 ARSA PSAP
2 glycosphingolipid metabolic process GO:0006687 8.62 ARSA PSAP

Sources for Metachromatic Leukodystrophy, Late Infantile Form

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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